Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing (Q57186049)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

0 references

0 references

inflammatory bowel diseases

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Kathy Christenson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Vivekanand Singh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Jignesh Dalal

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Darrell L Dinwiddie

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Julia M Bracken

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Julie A Bass

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Sarah E Soden

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Carol J Saunders

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Neil A Miller

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

David L Zwick

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Charles C Roberts

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

publication date

31 August 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

5-6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

442-447

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

Inflammatory bowel disease

15 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Genetics and pathogenesis of inflammatory bowel disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Interleukin-23/Th17 pathways and inflammatory bowel disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Infant colitis—it's in the genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Inflammatory bowel disease and mutations affecting the interleukin-10 receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

dbSNP: the NCBI database of genetic variation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

An integrated map of genetic variation from 1,092 human genomes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

SIFT: Predicting amino acid changes that affect protein function

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

A method and server for predicting damaging missense mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

IL-10R polymorphisms are associated with very-early-onset ulcerative colitis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Optimal enzymes for amplifying sequencing libraries.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Carrier testing for severe childhood recessive diseases by next-generation sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Fast and SNP-tolerant detection of complex variants and splicing in short reads

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

A framework for variation discovery and genotyping using next-generation DNA sequencing data

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

The UCSC Genome Browser database: extensions and updates 2011.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

Technical standards and guidelines: molecular genetic testing for ultra-rare disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2013.08.008

10.1016/J.YGENO.2013.08.008

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24001973%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference